Incidental Mutation 'R9391:Tax1bp1'
| ID |
710588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tax1bp1
|
| Ensembl Gene |
ENSMUSG00000004535 |
| Gene Name |
Tax1 (human T cell leukemia virus type I) binding protein 1 |
| Synonyms |
1700069J21Rik, TXBP151, D6Ertd772e, 1200003J11Rik, T6BP, D6Ertd404e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R9391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
52690714-52743765 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 52735220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 680
(Y680*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080723]
|
| AlphaFold |
Q3UKC1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080723
AA Change: Y680*
|
| SMART Domains |
Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: Y680*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
15 |
416 |
2.6e-92 |
PFAM |
|
coiled coil region
|
569 |
620 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
778 |
7.57e1 |
SMART |
|
ZnF_C2H2
|
780 |
805 |
3.21e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,178,542 (GRCm39) |
T1144A |
probably benign |
Het |
| Adam32 |
C |
T |
8: 25,374,472 (GRCm39) |
E507K |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,400,071 (GRCm39) |
E974G |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,602 (GRCm39) |
E560G |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,731,394 (GRCm39) |
H671Q |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,366 (GRCm39) |
T485M |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,446,022 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
A |
G |
15: 78,415,516 (GRCm39) |
C23R |
unknown |
Het |
| Ccdc18 |
T |
C |
5: 108,376,770 (GRCm39) |
F1404L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,198,027 (GRCm39) |
I2107N |
unknown |
Het |
| Cfap97d1 |
G |
T |
11: 101,881,655 (GRCm39) |
R117I |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
C |
14: 75,508,136 (GRCm39) |
Q199P |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,914 (GRCm39) |
Y2347* |
probably null |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| F2r |
A |
T |
13: 95,740,656 (GRCm39) |
V293D |
probably damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,629 (GRCm39) |
W22* |
probably null |
Het |
| Hira |
T |
C |
16: 18,767,892 (GRCm39) |
S696P |
possibly damaging |
Het |
| Klhl2 |
A |
G |
8: 65,275,684 (GRCm39) |
V73A |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,380,417 (GRCm39) |
W46R |
probably damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,665 (GRCm39) |
T664N |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,216,376 (GRCm39) |
K1166* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,297,979 (GRCm39) |
M176K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,408 (GRCm39) |
S3045P |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,272 (GRCm39) |
A127T |
probably damaging |
Het |
| Plekhg4 |
G |
C |
8: 106,106,043 (GRCm39) |
K813N |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prdm12 |
G |
A |
2: 31,544,162 (GRCm39) |
R255H |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,854,990 (GRCm39) |
I405T |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,983,178 (GRCm39) |
T328A |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,681,101 (GRCm39) |
S362T |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,744,630 (GRCm39) |
L818P |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,038,633 (GRCm39) |
V463I |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,418,739 (GRCm39) |
F241S |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,683 (GRCm39) |
S212P |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,116,159 (GRCm39) |
V62E |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,883,075 (GRCm39) |
N163K |
probably damaging |
Het |
| Trim8 |
T |
A |
19: 46,503,955 (GRCm39) |
Y502* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,773,473 (GRCm39) |
F54L |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,067 (GRCm39) |
L761Q |
probably damaging |
Het |
| Vps41 |
A |
T |
13: 18,994,616 (GRCm39) |
E154D |
probably benign |
Het |
|
| Other mutations in Tax1bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02383:Tax1bp1
|
APN |
6 |
52,730,351 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03177:Tax1bp1
|
APN |
6 |
52,713,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Tax1bp1
|
UTSW |
6 |
52,718,925 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Tax1bp1
|
UTSW |
6 |
52,718,933 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Tax1bp1
|
UTSW |
6 |
52,721,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Tax1bp1
|
UTSW |
6 |
52,704,179 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Tax1bp1
|
UTSW |
6 |
52,710,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1661:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1665:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1712:Tax1bp1
|
UTSW |
6 |
52,706,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Tax1bp1
|
UTSW |
6 |
52,698,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Tax1bp1
|
UTSW |
6 |
52,742,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Tax1bp1
|
UTSW |
6 |
52,735,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3782:Tax1bp1
|
UTSW |
6 |
52,716,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Tax1bp1
|
UTSW |
6 |
52,719,770 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4238:Tax1bp1
|
UTSW |
6 |
52,743,036 (GRCm39) |
nonsense |
probably null |
|
|
R4303:Tax1bp1
|
UTSW |
6 |
52,704,263 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4665:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4870:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5009:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5965:Tax1bp1
|
UTSW |
6 |
52,706,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Tax1bp1
|
UTSW |
6 |
52,721,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6328:Tax1bp1
|
UTSW |
6 |
52,723,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6338:Tax1bp1
|
UTSW |
6 |
52,706,361 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Tax1bp1
|
UTSW |
6 |
52,710,208 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7251:Tax1bp1
|
UTSW |
6 |
52,698,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7531:Tax1bp1
|
UTSW |
6 |
52,723,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8225:Tax1bp1
|
UTSW |
6 |
52,721,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9138:Tax1bp1
|
UTSW |
6 |
52,718,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9455:Tax1bp1
|
UTSW |
6 |
52,743,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Tax1bp1
|
UTSW |
6 |
52,706,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Tax1bp1
|
UTSW |
6 |
52,704,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Tax1bp1
|
UTSW |
6 |
52,698,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCTAGCCTGGGATGTGC -3'
(R):5'- TTTCTAGACATACAGCCTTAACACTCC -3'
Sequencing Primer
(F):5'- CTAGCCTGGGATGTGCTACCATG -3'
(R):5'- GCCTTAACACTCCACCTAAATTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation